Abstract

Cognitive impairments and social-function deficits are severe complaints in neurofibromatosis type 1 (NF1) patients. Empathetic pain perception may be disrupted in NF1 patients because of high-level cognitive deficits. This study investigated the empathy profiles of adult patients with NF1, especially concerning whether explicit and implicit empathetic pain perception are abnormal in this population. We examined empathetic pain perception through a paradigm based on perceiving another person’s pain; in this task, patients were required to make judgments about the presence of pain or the laterality of the body part, as shown in a picture. Twenty NF1 patients without obvious social or communication difficulties completed the task, and the results were compared with results from the normal controls (NCs). Regarding explicit empathetic pain processing, i.e., judging the presence of “pain” or “no pain”, there were no significant differences between patients and controls in accuracy or reaction time. However, in implicit empathetic processing, i.e., judging the laterality of “pain” or “no-pain” pictures, NF1 patients had significantly lower accuracy (p = 0.038) and significantly higher reaction times (p = 0.004) than the NCs. These results were consistent with those of a previous study showing that high-level cognitive deficits were prominent in NF1 patients when performing challenging tasks. The mechanisms and related brain network activity underlying these deficits should receive attention in the future.

Highlights

  • Neurofibromatosis type 1 (NF1) is an autosomal-dominant genetic disorder with an incidence of approximately 1 in every 2700–3000 live births [1]

  • All patients were free from cognitive impairment, as measured by the Mini-Mental State Examination (MMSE), and had slightly higher baseline BDI mood scores than the controls; the difference was close to significant (p = 0.095) (Table 1)

  • Our results demonstrated no significant differences in the NF1 patients, as compared to the normal controls (NCs), in the discrimination accuracy of others’ pain, and there were no significant changes in other behavioral indices during explicit empathetic processing

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Summary

Introduction

Neurofibromatosis type 1 (NF1) is an autosomal-dominant genetic disorder with an incidence of approximately 1 in every 2700–3000 live births [1]. Social function deficits are common in patients with NF1, and these complaints can severely limit normal life functioning [3]. Empathy is critical for effective social interactions, and any impairment in empathetic pain perception is a notable deficit in persons with diseases such as ASD and in those with focal brain lesions [7,8]. Empathetic pain perception is a form of integrative processing. It involves correctly recognizing feelings of pain and reacting appropriately [7,9]; this processing involves multiple brain areas and neural networks. Deficits in a wide range of cognitive processes as well as a high comorbidity with ASD may indicate that the empathetic pain perception of NF1 patients has been affected. The empathetic profiles of NF1 patients have not been developed

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